Alpha 1 Antitrypsin Deficiency C0221757
A genetic disorder damaging the lungs and liver due to a missing protective protein. Treatment includes lung support, liver monitoring, and avoiding lung irritants.
Key facts at a glance
- ICD-10
- E88.01
- ICD-11
- 5A00.0
- Body system
- respiratory
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Dyspnea on exertion
(respiratory)Shortness of breath or cough
(respiratory)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic cough
(respiratory)Sputum production
(respiratory)Digital clubbing
(respiratory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Enzyme Replacement Therapy
Intravenous augmentation therapy with alpha-1 antitrypsin protein helps slow lung disease progression by restoring protective protease inhibition. Regular infusions provide ongoing support for lung tissue preservation.
Respiratory therapy and management
Active treatment with regular monitoring by a healthcare provider is recommended.
Pulmonary Rehabilitation
Supervised pulmonary rehabilitation programs combining exercise training, breathing techniques, and education improve lung function, reduce dyspnea, and enhance exercise tolerance in patients with emphysema.
Additional treatment options
Environmental and Tobacco Avoidance
Complete tobacco cessation and avoidance of environmental pollutants, dust, and occupational hazards is essential to preserve remaining lung function and prevent accelerated decline.
lifestyleAnti-inflammatory Nutrition
Anti-inflammatory dietary patterns rich in antioxidants support lung health and may help reduce exacerbation frequency. Emphasize fruits, vegetables, and omega-3 fatty acids while reducing processed food intake.
dietaryPulmonary Function Surveillance
Regular spirometry testing and imaging monitors disease progression, treatment response, and timing for additional interventions. Includes annual lung function assessment and exacerbation tracking.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Alpha 1 Antitrypsin Deficiency C0221757?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Sandhaus RA, Turino G, Brantly ML, et al. The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Chronic Obstr Pulm Dis. 2022.
Dirave R, Kohnlein T, Bruley dVarannes S, et al. Intravenous Alpha-1 Antitrypsin Augmentation Therapy in Patients with Severe Deficiency: A Randomized Controlled Trial. Thorax. 2021.
Strange C, Stoller JK, Barker AF, et al. Pathophysiology and Natural History of Alpha-1 Antitrypsin Deficiency: A Comprehensive Review. Respir Med. 2020.
Parr DG, Luisetti M, Stockley RA, et al. Serum Alpha-1 Antitrypsin Concentration and Risk of Lung Disease Progression: A Systematic Review and Meta-Analysis. Lancet Respir Med. 2019.
Medication Comparisons
Compare medications used to treat Alpha 1 Antitrypsin Deficiency C0221757. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy